Associated Papers
GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.
Morris JA et al.
International Journal of Molecular Sciences, 2026
The Importance of Newborn Genetic Screening for Early Identification of GJB2 and SLC26A4 Related Hearing Loss.
Wener ER et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2025
Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.
Aliazami F et al.
International Journal of Pediatric Otorhinolaryngology, 2023
Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.
Pál M et al.
International Journal of Molecular Sciences, 2023
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I et al.
Human Genetics, 2022
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Pater JA et al.
Human Genetics, 2022
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
Ray M et al.
Journal of Pediatric Genetics, 2022
Is it time to report carrier state for recessive disorders in every microarray analysis?-A pilot model based on hearing loss genes deletions.
Maya I et al.
European Journal of Human Genetics : Ejhg, 2021
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Buonfiglio P et al.
Genes, 2020
Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families.
Pandya A et al.
Molecular Genetics & Genomic Medicine, 2020
GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations.
Koohiyan M et al.
Annals of Human Genetics, 2020
Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews.
Falah M et al.
Fetal and Pediatric Pathology, 2020
Systematic Review of Pathogenic GJB2 Variants in the Latino Population.
Bouzaher MH et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations.
Koohiyan M et al.
Journal of Audiology & Otology, 2019
The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions.
Talbi S et al.
International Journal of Pediatric Otorhinolaryngology, 2019
Genetics of hereditary hearing loss in east Iran population: A systematic review of GJB2 mutations.
Koohiyan M et al.
Intractable & Rare Diseases Research, 2019
Systematic Review of Hearing Loss Genes in the African American Population.
Worden CP et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2019
GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.
Koohiyan M et al.
International Journal of Pediatric Otorhinolaryngology, 2018
Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.
Bliznetz EA et al.
Journal of Human Genetics, 2017
Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.
Beheshtian M et al.
Archives of Iranian Medicine, 2016
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
Mikstiene V et al.
Bmc Genetics, 2016
Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.
Amorini M et al.
Annals of Human Genetics, 2015
A genotype-phenotype correlation in Sicilian patients with GJB2 biallelic mutations.
Martines F et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2015
Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss.
Salvago P et al.
International Journal of Audiology, 2014
Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects.
Neocleous V et al.
Journal of Genetics, 2014
Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications.
Varga L et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2014
Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.
Matos TD et al.
International Journal of Audiology, 2013
A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.
Gonçalves AC et al.
International Journal of Pediatric Otorhinolaryngology, 2013
Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey.
Tarkan Ö et al.
The Journal of Laryngology and Otology, 2013
Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome.
Levit NA et al.
Biochimica Et Biophysica Acta, 2012
Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss.
Chen P et al.
International Journal of Pediatric Otorhinolaryngology, 2012
Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme.
Chinetti V et al.
International Journal of Audiology, 2011
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.
Lipan M et al.
The Laryngoscope, 2011
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
Mahdieh N et al.
Journal of Human Genetics, 2010
Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidates.
Hochman JB et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2010
Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.
Gravina LP et al.
International Journal of Pediatric Otorhinolaryngology, 2010
Connexin-26-associated deafness: phenotypic variability and progression of hearing loss.
Chan DK et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss.
Kenna MA et al.
Archives of Otolaryngology--head & Neck Surgery, 2010
GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment.
Padma G et al.
Journal of Genetics, 2009
A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients.
Hamid M et al.
Journal of Genetics, 2009
Deafness genes in Israel: implications for diagnostics in the clinic.
Brownstein Z et al.
Pediatric Research, 2009
Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.
Cama E et al.
International Journal of Audiology, 2009
Infant hearing loss and connexin testing in a diverse population.
Schimmenti LA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2008
Genotyping for Cx26 and Cx30 mutations in cases with congenital hearing loss.
Evirgen N et al.
Genetic Testing, 2008
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
Pollak A et al.
American Journal of Medical Genetics. Part A, 2007
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Putcha GV et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
Connexin 26 mutations in autosomal recessive deafness disorders: a review.
Apps SA et al.
International Journal of Audiology, 2007